A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2586080



Internal ID347659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:169923317..169925402hg38UCSC Ensembl
Outerchr4:169922993..169925878hg38UCSC Ensembl
Innerchr4:170844468..170846553hg19UCSC Ensembl
Outerchr4:170844144..170847029hg19UCSC Ensembl
Innerchr4:171081043..171083128hg18UCSC Ensembl
Outerchr4:171080719..171083604hg18UCSC Ensembl
Cytoband4q33
Allele length
AssemblyAllele length
hg382886
hg192886
hg182886
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275368
Supporting Variants
Samples
Known GenesLOC100506085
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2586080
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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